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Genetic analysis of patients with deep vein thrombosis during pregnancy and postpartum

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Abstract

Deep vein thrombosis (DVT) is a serious pregnancy-related complication. Recent studies indicate that the genetic background for DVT differs with ethnicity. In our study, we enrolled 18 consecutive Japanese patients who had developed DVT during pregnancy and postpartum. We performed a genetic analysis of three candidate genes for DVT, protein S, protein C and antithrombin, in these patients. We found that four patients had missense mutations in the protein S gene, including the K196E mutation in two patients, the L446P mutation in one patient, and the D79Y and T630I mutations in one patient, as well as one patient with the C147Y mutation in the protein C gene. All five patients with genetic mutations had DVT in their first two trimesters. Nine of the patients without genetic mutations developed DVT in the first two trimesters, and four in the postpartum period. Thus, genetic mutations in the protein S gene were predominant in pregnant Japanese DVT women, and DVT in pregnant women with genetic mutations occurred more frequently at the early stage of pregnancy than postpartum. Considering the rapid decrease in protein S activity during pregnancy, we may need to assess thrombophilia in women before pregnancy.

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Acknowledgments

We thank Dr. Toshiyuki Sakata for the activity assay, Ms. Junko Ishikawa, Ms. Kanako Sakashita, Ms. Yukiko Sato, and Dr. Shigenori Honda for DNA sequencing, and Dr. Yoshihiro J. Ono for critical reading of the manuscript. This study was supported by a Grant-in-Aid from the Ministry of Health, Labor, and Welfare of Japan; by the Ministry of Education, Culture, Sports, Science, and Technology of Japan and by the Program for the Promotion of Fundamental Studies in Health Sciences of the National Institute of Biomedical Innovation (NIBIO) of Japan.

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Authors and Affiliations

  1. Department of Perinatology and Gynecology, National Cerebral and Cardiovascular Center, 5-7-1 Fujishirodai, Suita, Osaka, 565-8565, Japan

    Reiko Neki & Tomoaki Ikeda

  2. Department of Maternal Medicine, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan

    Tomio Fujita, Isao Nakanishi & Masako Waguri

  3. Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan

    Koichi Kokame & Toshiyuki Miyata

  4. Department of Clinical Medicine, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan

    Yuzo Imayoshi

  5. Department of Obstetrics, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan

    Noriyuki Suehara

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  1. Reiko Neki
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  2. Tomio Fujita
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  3. Koichi Kokame
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  4. Isao Nakanishi
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  5. Masako Waguri
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  7. Noriyuki Suehara
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  8. Tomoaki Ikeda
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  9. Toshiyuki Miyata
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Correspondence to Reiko Neki.

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Neki, R., Fujita, T., Kokame, K. et al. Genetic analysis of patients with deep vein thrombosis during pregnancy and postpartum. Int J Hematol 94, 150–155 (2011). https://doi.org/10.1007/s12185-011-0902-z

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  • DOI: https://doi.org/10.1007/s12185-011-0902-z

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